EMG1( Human )

Entrez Gene 10436 Entrez Gene 10436
EMG1, N1-specific pseudouridine methyltransferase

Alias

C2F|Grcc2f|NEP1

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].

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